MYH6

myosin heavy chain 6
OMIM: 160710, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red MYH6 in Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.12
Latest signed off version: v4.8 (1 May 2024)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • South West GLH
    • London South GLH
    • North West GLH
    • Wessex and West Midlands GLH
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 1EE (613252)
    • Atrial septal defect 3 (614089)
    • {Sick sinus syndrome 3} (614090)
    • Cardiomyopathy, hypertrophic, 14 (613251)
    • Cardiomyopathy, familial hypertrophic, 14
    Green MYH6 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cardiomyopathy, dilated, 1EE (613252)
    • Atrial septal defect 3 (614089)
    • {Sick sinus syndrome 3} (614090)
    • Cardiomyopathy, hypertrophic, 14 (613251)
    • Cardiomyopathy, dilated, 1EE
    Green MYH6 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.80

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Atrial septal defect 3 614089
    • Shone complex
    Red MYH6 in Laterality disorders and isomerism


    Version 3.10
    Latest signed off version: v3.9 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • visceral heterotaxy, MONDO:0018677
    Amber MYH6 in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.25
    Latest signed off version: v2.23 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • UKGTN
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Cardiomyopathy, hypertrophic, 14 (613251)
    • Cardiomyopathy, dilated, 1EE (613252)
    • {Sick sinus syndrome 3} (614090)
    • Atrial septal defect 3 (614089)
    • Cardiomyopathy, dilated, 1EE
    Green MYH6 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ATRIAL SEPTAL DEFECT TYPE 3
    • CARDIOMYOPATHY DILATED TYPE 1EE
    • CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14
    Red MYH6 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • CARDIOMYOPATHY DILATED TYPE 1EE 613252
    • CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251
    • ATRIAL SEPTAL DEFECT TYPE 3 614089
    Red MYH6 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Red MYH6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 14, 613251
    • Atrial septal
    • defect 3, 614089
    • Cardiomyopathy, dilated, 1EE, 613252
    • {Sick sinus syndrome 3}, 614090
    Green MYH6 in Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Atrial septal defect 3, OMIM:614089
    • Cardiomyopathy, dilated, 1EE OMIM:613252
    • Cardiomyopathy, hypertrophic, 14, OMIM:613251
    • {Sick sinus syndrome 3}, OMIM:614090
    Red MYH6 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Green MYH6 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, hypertrophic, 14, 613251
    • Cardiomyopathy, dilated, 1EE, 613252
    • Atrial septal defect 3, 614089